Australian breakthrough could prevent millions of birth defects

Australia’s biggest medical research breakthrough in decades could save more lives than the revolutionary introduction of folic acid into pregnant women’s diets, according to the Sydney scientist behind the landmark discovery.

Congenital heart disease specialist Sally Dunwoodie said the new finding had the potential to be “more wide-reaching” than the 1991 confirmation that folic acid supplements could prevent spina bifida – a realisation that spawned a 70 per cent reduction in babies born with the condition.

Professor Dunwoodie’s team has discovered a cause of serious birth abnormalities that affect around eight million babies around the world every year, killing almost half of them before they turn five, plus an estimated two million miscarriages.

Astonishingly, the team has also found a surprisingly simple prevention: increased doses of the widely used dietary supplement vitamin B3, or niacin.

The “blockbuster breakthrough” is being hailed as one of Australia’s greatest ever medical discoveries. Professor Dunwoodie’s achievement has already earned comparisons with epidemiologist Fiona Stanley, the acclaimed former Australian of the Year who played a key role in the folic acid discovery.

“Awesome findings by our awesome research teams,” a reader of The Australian commented. “A great candidate for Australian of the year,” another noted.

Professor Dunwoodie is an internationally renowned biomedical researcher at the Victor Chang Cardiac Research Institute in inner Sydney. She said the science behind the discovery had not been simple.

“It took 12 years, but the beauty is the simplicity of the prevention. It’s cheap and it’s available, and it’s important that a preventative is like that.

“I am feeling emotional and so proud of everyone here at the Victor Chang Institute, and all our collaborators in Australia.”

David Winlaw, a paediatric cardiac surgeon at The Children’s Hospital at Westmead and a researcher with the University of Sydney, said his team operated on 600 children each year. He said he expected fewer operations would be needed in the future.

“This discovery is the single largest advance in the field I work in for the past 20 years,” Professor Winlaw said.

Using cutting edge genomics and genetic editing techniques, the researchers found that low levels of a coenzyme called “nicotinamide adenine dinucleotide” prevented babies’ organs from developing correctly in the womb.

They discovered that the deficiency, which is particularly dangerous during the first trimester of pregnancy, could be overcome with supplementations of niacin.

The team engineered mice with genetic mutations that caused the deficiency, and found that their offspring either miscarried or had serious birth defects. After the mice were given extra niacin in their diets, all the offspring were born healthy.

Coincidentally, separate research released yesterday suggested that another form of vitamin B3 could prevent melanoma.

The findings have been published today in the New England Journal of Medicine. The institute said the discovery could “significantly” avert congenital heart disease, the most common birth defect — affecting one baby in 100 — and responsible for 30 per cent of childhood deaths.

It said 42 babies were born with heart defects in Australia every week, with around 70 per cent undergoing heart surgery.

Altogether, the findings could benefit 12,000 families a year in Australia and 10 million around the world.